Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis
oleh: Haiyan Tang, Xiaoliu Shi, Guiying Zhang
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2021-12-01 |
Deskripsi
Abstract Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes. We present a rare case of ARCI that carried a novel null mutation and a novel splice site mutation in the CYP4F22 gene.